Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.Q63R
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PMP22

NM_000304.4:p.Q63R

Associated Papers

PMP22-Related Neuropathies: A Systematic Review.

Cesaroni CA et al.

Genes, 2025

41300731 (PubMed )
Supplement: genes-16-01279-s001.zip › Supplementary_Table_S2___S3.pdf

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.

Ward KS et al.

Brain : a Journal of Neurology, 2025

Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants.

Ward KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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